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Insightful work led by @oliverkarenl and Colin Ellis - implications for PRS estimation to understand common variant burden.

He is still the best orator I have heard !

Our NEW Primer on Developmental and epileptic encephalopathies is live today! By Prof Ingrid Scheffer , @sameermzuberi , Dr. Heather Mefford @hcmefford.bsky.social, Renzo Guerrini and May McTague. Check it out here: go.nature.com/3TgZ0ck

Our review of DEE led by Prof Ingrid Scheffer with Dr. Heather Mefford @hcmefford.bsky.social Renzo Guerrini @sameermzuberi is out in Nature Reviews Disease Primers! Source: Nature search.app/mAvaZZiS4vw2Cy…

Couldn’t agree more- the future is soooooo exciting!!!

Praxis Medicines SynGAP Research Fund (SRF) Great list of speakers today Prof Ingrid Scheffer Orrin Devinsky Justin West Kris Pierce of SCN2A Asia Pacific Steve Petrou of The Florey and many more... we have to work together.

AI cannot replace the clinician patient interface ! We were convinced by an excellent argument from Abhimanyu Mahajan MDS

Just out The Lancet Haematology: Sara, Manni Mohyuddin and I ask: should we screen for plasma cell dyscrasias in people with osteopenia or osteoporosis? New data from iStopMM challenges previous dogma Interested to hear your thoughts

Inspiring and thought provoking meeting thanks to The Hospital for Sick Children (SickKids) and great to see Team Gene-STEPS!

Wonderful to see this year's Nobel Prize in Physiology or Medicine go to the co-discoverers of microRNA!

Media training ⁦Australian Academy of Health and Medical Sciences⁩ Mentorship Program style

Thank you to the Epilepsy Society of Australia The Epilepsy Society of Australia for the huge honour of the Peter Bladin award. Peter was an Epilepsy legend and I was fortunate that he was also a mentor. Warmest thanks to our President stephen malone, Sam, Piero and Brialie for all your support.

#Bellberry won National Championing Health awards - so thrilled and so well deserved!! Such an honour to be part of the team behind this profit-for-purpose Ethics company supporting 40% of trials in Australia

YES ASEPA Sessions program is out now! Plan your travels and join us for this fantastic learning feast in New Delhi. #aoec2025 Prof Ingrid Scheffer Dr Ajay Asranna International League Against Epilepsy

1st Symposium of the Pediatric Commission of the International League Against Epilepsy Online and In-Person March 21-24, 2025 cursoslbe.com.br Julia LeVan, MD Elaine Wirrell Helen Cross Rima Nabbout Prof Ingrid Scheffer

Delighted to share that Blood Cancer Talks has surpassed 100,000 downloads - thanks to our guests for sharing their wisdom & our listeners for joining us. Find us at bloodcancertalks.com or wherever you get your podcasts. Raj Chakraborty Ashwin Kishtagari, MD #lymphoma #haematology

Don't miss out on the latest clinical research and cutting edge science in #GeneticEpilepsy and #DEEs at our upcoming conference #GETA2025, May 3rd 9:00am (UTC+10). You can join via livestream globally. Register via: eventbrite.com.au/e/geta-2025-ti…

Finding the underlying cause in genetic epilepsies is important, but only the start of working towards an understanding and treatment. Prof Ingrid Scheffer #GETA2025

Understanding the natural history of rare disorders such as developmental epileptic encephalopathies is key to developing treatments, clinical trials, registration and reimbursement. The DEER natural history study is now open for recruitment globally via the QR code. #GETA2025

Despite rare genetic neurodevelopmental disorders such as genetic epilepsies / DEEs being well suited to n of 1 trials there have only been a handful performed. N of 1 trials allow assessment of promising treatments in rare monogenetic epilepsies. #GETA2025